PubRank

R P Lifton

Author PubWeight™ 137.36‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Evidence for a gene influencing blood pressure on chromosome 17. Genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the framingham heart study. Hypertension 2000 8.84
2 Human hypertension caused by mutations in WNK kinases. Science 2001 8.71
3 Molecular basis of human hypertension: role of angiotensinogen. Cell 1992 6.07
4 Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science 1999 6.04
5 Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 1996 5.95
6 The organization of the histone genes in Drosophila melanogaster: functional and evolutionary implications. Cold Spring Harb Symp Quant Biol 1978 5.60
7 Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nat Genet 1995 4.45
8 Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 1996 3.84
9 Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet 1999 3.73
10 Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 1996 3.71
11 Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 1996 3.58
12 Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 1997 3.51
13 Isolation of specific RNA's using DNA covalently linked to diazobenzyloxymethyl cellulose or paper. Methods Enzymol 1979 3.04
14 A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system. Proc Natl Acad Sci U S A 1995 2.69
15 Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. EMBO J 1996 2.39
16 Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 2000 2.38
17 Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science 2000 2.21
18 Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int 2001 2.18
19 Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet 1998 2.16
20 IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23. Nat Genet 2000 2.12
21 A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. Proc Natl Acad Sci U S A 1995 2.10
22 The activity of the epithelial sodium channel is regulated by clathrin-mediated endocytosis. J Biol Chem 1997 2.10
23 Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension 2001 1.99
24 Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 1998 1.73
25 The connecting tubule is the main site of the furosemide-induced urinary acidification by the vacuolar H+-ATPase. Kidney Int 2006 1.60
26 Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc Natl Acad Sci U S A 1998 1.52
27 False positive mononucleosis screening test results associated with Klebsiella hepatic abscess. Am J Clin Pathol 1990 1.51
28 Cloning of the NCX2 isoform of the plasma membrane Na(+)-Ca2+ exchanger. J Biol Chem 1994 1.48
29 Impaired potassium-stimulated aldosterone production: a possible explanation for normokalemic glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab 1997 1.46
30 A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. EMBO J 1997 1.46
31 Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proc Natl Acad Sci U S A 1995 1.43
32 Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. Nat Genet 1997 1.39
33 Absence of linkage between the angiotensin converting enzyme locus and human essential hypertension. Nat Genet 1992 1.34
34 Evidence of genetic heterogeneity in five kindreds with familial hypertrophic cardiomyopathy. Circulation 1992 1.29
35 A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. N Engl J Med 1996 1.28
36 A mutation of angiotensinogen in a patient with preeclampsia leads to altered kinetics of the renin-angiotensin system. J Biol Chem 1995 1.19
37 Blunted renal vascular response to angiotensin II is associated with a common variant of the angiotensinogen gene and obesity. J Hypertens 1996 1.16
38 Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype. Ann Intern Med 1992 1.07
39 Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34. Am J Hum Genet 1999 1.04
40 Bartter syndrome and focal segmental glomerulosclerosis: a possible link between two diseases. Pediatr Nephrol 2000 1.04
41 Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene. J Biol Chem 2001 1.02
42 The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes. Am J Physiol 1996 0.98
43 Liddle's disease: abnormal regulation of amiloride-sensitive Na+ channels by beta-subunit mutation. Am J Physiol 1996 0.98
44 Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab 1997 0.97
45 Additional support for the association of SLITRK1 var321 and Tourette syndrome. Mol Psychiatry 2010 0.96
46 Liddle's syndrome: prospective genetic screening and suppressed aldosterone secretion in an extended kindred. J Clin Endocrinol Metab 1997 0.95
47 Genetic heterogeneity of inherited cerebral cavernous malformation. Neurosurgery 1996 0.94
48 Genetic linkage analysis in familial benign hypercalcemia using a candidate gene strategy. I. Studies in four families. J Clin Endocrinol Metab 1992 0.93
49 Ion transporter mutations in Gitelman's and Bartter's syndromes. Curr Opin Nephrol Hypertens 1998 0.91
50 Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and regulation of potassium homeostasis. Steroids 1995 0.90
51 Structure of the 5'-flanking regulatory region and gene for the human growth factor-activatable Na/H exchanger NHE-1. J Biol Chem 1991 0.90
52 Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism. Hypertension 1998 0.89
53 Non-modulation as an intermediate phenotype in essential hypertension. Hypertension 1992 0.89
54 Are there interactions and relations between genetic and environmental factors predisposing to high blood pressure? Hypertension 1991 0.87
55 Glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab 1999 0.86
56 Peptide block of constitutively activated Na+ channels in Liddle's disease. Am J Physiol 1996 0.86
57 Glucocorticoid-remediable aldosteronism and pregnancy. Hypertension 2000 0.83
58 Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3. Genes Immun 2013 0.83
59 Recent advances in the molecular genetics of hypertension. Curr Opin Nephrol Hypertens 1996 0.82
60 Multigenic human hypertension: evidence for subtypes and hope for haplotypes. J Hypertens Suppl 1990 0.81
61 Absence of amiloride-sensitive sodium absorption in the airway of an infant with pseudohypoaldosteronism. J Pediatr 1999 0.81
62 Mutations contributing to human blood pressure variation. Recent Prog Horm Res 1997 0.80
63 Mutations in Na(K)Cl transporters in Gitelman's and Bartter's syndromes. Curr Opin Cell Biol 1998 0.79
64 Low peripheral plasma renin activity as a critical marker in pediatric hypertension. Pediatr Nephrol 1997 0.77
65 Glucocorticoid-remediable aldosteronism. Endocrinol Metab Clin North Am 1994 0.77
66 Variation of phenotype in patients with glucocorticoid remediable aldosteronism. J Med Genet 1996 0.77
67 Counting strokes. Nat Genet 1996 0.76
68 Size and sequence homology of masked maternal and embryonic histone messenger RNAs. Dev Biol 1976 0.76
69 Lipoprotein glomerulopathy: a new role for apolipoprotein E? J Am Soc Nephrol 1997 0.75
70 Mutations in renal ion transporters cause Gitelman's and Bartter's syndromes of inherited hypokalemic alkalosis. Adv Nephrol Necker Hosp 1997 0.75
71 Glucocorticoid-remediable aldosteronism. Compr Ther 1995 0.75
72 The molecular basis of a hereditary form of hypertension, glucocorticoid-remediable aldosteronism. Trends Endocrinol Metab 1993 0.75
73 Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up. Ann Oncol 2017 0.75